Organ manifestations at the time of diagnosis in 85 patients with Mulibrey nanism
Feature | Findings in age groups | Frequency(%) | ||
---|---|---|---|---|
<1 year (n = 29) | 1–5 years (n = 29) | >5 years (n = 27) | ||
*Males (n = 39); †females (n = 46) | ||||
Heart | ||||
Signs of heart disease | 6 | 4 | 5 | 18 |
Cardiomegaly | 4 | 2 | 6 | 14 |
Dyspnoea | 4 | 1 | 5 | 12 |
Prominent veins on upper body | 3 | 1 | 5 | 11 |
Cardiac anomaly | 6 | 2 | 4 | 15 |
ASD | 3 | 1 | 2 | 8 |
VSD | 1 | 1 | 2 | 5 |
Open ductus arteriosus | 2 | 0 | 0 | 3 |
Heart failure (CHF) | 4 | 1 | 5 | 12 |
Pericardial constriction | 2 | 1 | 2 | 6 |
Liver | ||||
Hepatomegaly | 16 | 9 | 13 | 45 |
Hepatosplenomegaly | 4 | 1 | 4 | 11 |
Ascites | 3 | 0 | 6 | 11 |
Liver tumours | 2 | 2 | 2 | 9 |
Urogenital | ||||
Renal anomaly | 4 | 4 | 6 | 18 |
Hydronephrosis | 2 | 0 | 3 | 6 |
Abnormally located kidney | 1 | 1 | 2 | 5 |
Hypoplastic kidneys | 1 | 2 | 1 | 5 |
Horseshoe kidney | 1 | 1 | 0 | 2 |
Male genital anomaly* | 6 | |||
Cryptorchidism | 1/13 | 3/15 | 1/11 | 6 |
Female genital anomaly† | 2 | |||
Hyperplastic labiae | 0/16 | 1/14 | 0/16 | 1 |
Prominent clitoris | 0/16 | 1/14 | 1/16 | 2 |
Wilms’ tumour | 0 | 1 | 1 | 3 |
Benign renal neoplasia | 1 | 0 | 1 | 3 |
Nervous system | ||||
Yellowish dots in the ocular fundi | 20 | 17 | 24 | 79 |
Muscular hypotonicity | 23 | 19 | 15 | 68 |
Large cerebral ventricles and basal cisternas | 16 | 13 | 8 | 44 |
Slow speech development | 7 | 9 | 5 | 30 |
Slow motor development | 5 | 9 | 6 | 29 |
Skin | ||||
Cutaneous naevi flammei | 16 | 20 | 19 | 65 |